Search results for zic1

164 hits were found for zic1

# Family MCID Name MIFTS Score
1
c CRN256 Craniosynostosis 6 24 36.667
2
STR112 Structural Brain Anomalies with Impaired Intellectual Development and Craniosynostosis 23 30.944
3
NRL016 Neural Tube Defects 81 22.291
4
P MDL005 Medulloblastoma 75 20.178
5
P CRN037 Craniosynostosis 68 19.099
6
P HLP001 Holoprosencephaly 69 17.083
7
P MCR010 Microcephaly 60 15.655
8
P SCL018 Scoliosis 57 14.335
9
LRN003 Learning Disability 49 12.980
10
SYN005 Synostosis 43 12.980
11
CRB027 Cerebellar Disease 47 11.224
12
BLP046 Blepharophimosis, Ptosis, and Epicanthus Inversus 56 10.043
13
STH001 Saethre-Chotzen Syndrome 66 9.642
14
P PRT042 Parietal Foramina 51 9.642
15
P HRM001 Hermansky-Pudlak Syndrome 65 8.107
16
ISL049 Isolated Dandy-Walker Malformation Without Hydrocephalus 9 8.021
17
ISL050 Isolated Dandy-Walker Malformation with Hydrocephalus 9 8.021
18
ISL061 Isolated Brachycephaly 29 8.021
19
ISL062 Isolated Plagiocephaly 37 8.021
20
ISL087 Isolated Oxycephaly 36 8.021
21
c HLP028 Holoprosencephaly 5 47 7.525
22
P WRD001 Waardenburg's Syndrome 60 7.525
23
CLP002 Colpocephaly 21 7.525
24
PRN033 Paraneoplastic Neurologic Disorders 31 7.525
25
P GST053 Gastric Cancer 83 5.900
26
CRB209 Cerebellar Malformation 23 4.050
27
P HYP265 Hypotonia 42 3.377
28
P BRS047 Breast Cancer 98 3.194
29
P PNC035 Pancreatic Cancer 86 3.194
30
HLX001 Helix Syndrome 48 3.155
31
P JBR020 Joubert Syndrome 1 74 2.994
32
END057 Endometrial Cancer 72 2.945
33
CRV002 Cervix Uteri Carcinoma in Situ 47 2.945
34
CRV045 Cervical Intraepithelial Neoplasia 39 2.945
35
SPN221 Spina Bifida Occulta 40 2.818
36
P HPT023 Hepatocellular Carcinoma 96 2.789
37
CRV038 Cervical Squamous Cell Carcinoma 58 2.789
38
SQM006 Squamous Cell Carcinoma 60 2.789
39
EPC005 Epicanthus 36 2.724
40
BLP004 Blepharophimosis 36 2.724
41
P PTS002 Ptosis 52 2.724
42
ATX038 Ataxia and Polyneuropathy, Adult-Onset 46 2.624
43
MLG079 Malignant Pleural Mesothelioma 42 2.621
44
P BNG032 Benign Mesothelioma 53 2.621
45
P CRB045 Cerebellar Hypoplasia 40 2.437
46
P LPS002 Liposarcoma 64 2.337
47
DND001 Dandy-Walker Syndrome 49 2.254
48
MYX005 Myxoid Liposarcoma 65 2.231
49
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 68 2.231
50
CLL004 Cellular Myxoid Liposarcoma 30 2.231
51
GLM045 Glioma 63 2.171
52
BRT054 Brittle Bone Disorder 74 2.117
53
c OST080 Osteogenesis Imperfecta, Type Ii 56 2.117
54
DSM004 Desmoid Tumor 66 2.117
55
GLB002 Glioblastoma 67 2.117
56
P HYP035 Hypophosphatasia 62 2.117
57
TTH004 Tethered Spinal Cord Syndrome 41 2.117
58
MNN043 Meningioma, Familial 79 1.851
59
BRN032 Brain Glioma 45 1.744
60
GLL048 Glial Tumor 52 1.744
61
P SPN237 Spina Bifida Aperta 19 1.700
62
P LSS002 Lissencephaly 50 1.645
63
MCR037 Macroglossia 44 1.515
64
ORL011 Oral Cancer 60 1.515
65
SCR001 Secretory Meningioma 40 1.424
66
LYM002 Lymphoplasmacyte-Rich Meningioma 35 1.424
67
SPN021 Spinal Meningioma 50 1.424
68
WSC001 Wisconsin Syndrome 7 1.424
69
SYN106 Syndromic Craniosynostosis 32 1.300
70
RHM015 Rhombencephalosynapsis 29 1.300
71
c SPN101 Spinocerebellar Ataxia 29 54 1.274
72
PTH003 Pathologic Nystagmus 52 1.274
73
TRD008 Triiodothyronine Receptor Auxiliary Protein 33 1.163
74
LNG039 Lung Squamous Cell Carcinoma 57 1.130
75
LNG012 Lung Occult Squamous Cell Carcinoma 20 1.130
76
LNG007 Lung Mixed Small Cell and Squamous Cell Carcinoma 21 1.130
77
CBB005 Cobblestone Lissencephaly 31 1.007
78
P OVR042 Ovarian Cancer 88 1.007
79
ANS011 Anus Cancer 57 1.007
80
P CRB059 Cerebellar Degeneration 36 1.007
81
P SMP003 Simpson-Golabi-Behmel Syndrome 49 0.822
82
P BLD134 Bladder Cancer 79 0.822
83
CRV035 Cervical Cancer 73 0.822
84
P MLT020 Multiple Sclerosis 79 0.822
85
P MLT008 Multinodular Goiter 42 0.822
86
P BLY001 B-Lymphoblastic Leukemia/lymphoma 52 0.822
87
HLC007 Helicobacter Pylori Infection 67 0.822
88
P KLL001 Kallmann Syndrome 65 0.822
89
SPN035 Spindle Cell Sarcoma 54 0.822
90
CRB004 Cerebral Artery Occlusion 45 0.822
91
P GRV001 Graves' Disease 55 0.822
92
GTR002 Goiter 53 0.822
93
P HYP086 Hypothyroidism 69 0.822
94
SRC014 Sarcoma 65 0.822
95
P HYP076 Hyperthyroidism 53 0.822
96
EMB007 Embryonal Sarcoma 40 0.822
97
PRN032 Paraneoplastic Cerebellar Degeneration 25 0.822
98
XLN179 X-Linked Intellectual Disability, Turner Type 23 0.581
99
c OPT051 Opitz Gbbb Syndrome, Type I 46 0.581
100
MNT058 Mental Retardation, X-Linked, Syndromic, Turner Type 40 0.581
101
AGN016 Aging 54 0.581
102
P SCH015 Schizophrenia 74 0.581
103
P PHC003 Pheochromocytoma 69 0.581
104
c OPT053 Optic Atrophy 1 62 0.581
105
P PLM037 Pulmonary Hypertension 72 0.581
106
P OCL002 Oculocutaneous Albinism 59 0.581
107
ATS010 Autosomal Recessive Disease 42 0.581
108
c MJR022 Major Affective Disorder 8 38 0.581
109
OBS015 Obesity, Hyperphagia, and Developmental Delay 35 0.581
110
DDF001 Dedifferentiated Liposarcoma 49 0.581
111
CHR103 Charge Syndrome 66 0.581
112
ELL001 Ellis-Van Creveld Syndrome 62 0.581
113
BHR002 Bohring-Opitz Syndrome 48 0.581
114
EWN003 Ewing Sarcoma 70 0.581
115
c HYP522 Hypogonadotropic Hypogonadism 11 with or Without Anosmia 28 0.581
116
SWN003 Sweeney-Cox Syndrome 39 0.581
117
c MJR024 Major Affective Disorder 9 41 0.581
118
c HRM006 Hermansky-Pudlak Syndrome 3 44 0.581
119
c HRM008 Hermansky-Pudlak Syndrome 5 47 0.581
120
c HRM009 Hermansky-Pudlak Syndrome 6 45 0.581
121
MLN073 Melanosis, Neurocutaneous 45 0.581
122
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 65 0.581
123
CTR172 Citrullinemia, Classic 65 0.581
124
c NML003 Nemaline Myopathy 2 51 0.581
125
JCB001 Jacobsen Syndrome 50 0.581
126
CLB010 Coloboma of Macula 53 0.581
127
P NNN008 Noonan Syndrome 1 77 0.581
128
c HYP521 Hypogonadotropic Hypogonadism 10 with or Without Anosmia 26 0.581
129
ADR040 Adrenal Gland Pheochromocytoma 46 0.581
130
P PTT014 Pitt-Hopkins Syndrome 64 0.581
131
P MYP004 Myopathy 67 0.581
132
WLL039 Well-Differentiated Liposarcoma 40 0.581
133
FTT001 Fatty Liver Disease 62 0.581
134
47X002 47,xyy 48 0.581
135
HYD048 Hydrocephalus with Stenosis of the Aqueduct of Sylvius 38 0.581
136
P LPM005 Lipomatosis 47 0.581
137
P BPL003 Bipolar Disorder 56 0.581
138
P BRN006 Branchiootorenal Syndrome 50 0.581
139
GST040 Gastric Adenocarcinoma 67 0.581
140
c HYP532 Hypogonadotropic Hypogonadism 18 with or Without Anosmia 27 0.581
141
P ADN016 Adenocarcinoma 63 0.581
142
P HYD006 Hydrocephalus 61 0.581
143
SYN090 Syndromic X-Linked Intellectual Disability Turner Type 32 0.581
144
OCL010 Ocular Hypotension 37 0.581
145
P TCD001 Tic Disorder 49 0.581
146
PNC041 Pancreatic Ductal Adenocarcinoma 51 0.581
147
P NML001 Nemaline Myopathy 48 0.581
148
P EHL001 Ehlers-Danlos Syndrome 58 0.581
149
HTR003 Heterotaxy 43 0.581
150
ALB002 Albinism 47 0.581
151
c PSD047 Pseudo-Turner Syndrome 52 0.581
152
SFT003 Soft Tissue Sarcoma 57 0.581
153
UTR043 Uterine Sarcoma 40 0.581
154
HYP266 Hypoxia 57 0.581
155
CRN088 Craniorachischisis 35 0.581
156
RTR012 Retroperitoneal Liposarcoma 23 0.581
157
CKT002 Cakut 47 0.573
158
LNG111 Lung Non-Squamous Non-Small Cell Carcinoma 56 0.427
159
c MSM022 Mismatch Repair Cancer Syndrome 1 70 0.427
160
ESP021 Esophageal Cancer 83 0.427
161
P GLM040 Glioma Susceptibility 1 71 0.427
162
P LNG021 Lung Occult Small Cell Carcinoma 20 0.427
163
LNG019 Lung Combined Type Small Cell Carcinoma 32 0.427
164
P OLG002 Oligodendroglioma 66 0.427
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